儿童TCF3-PBX1融合基因阳性急性前体B淋巴细胞白血病临床特征及预后分析  

Clinical characteristics and prognosis analysis of TCF3-PBX1 fusion gene-positive childhood B-cell precursoracute lymphoblastic leukemia

作　　者：庄树铨 郑湧智 李健[2] 乐少华[2] 温红[3] 吴兴国 华雪玲[2] 郑浩[2] 陈再生[2] 翁开枝 Zhuang Shuquan;Zheng Yongzhi;Li Jian;Le Shaohua;Wen Hong;Wu Xingguo;Hua Xueling;Zheng Hao;Chen Zaisheng;Weng Kaizhi(Department of Pediatric,Quanzhou First Hospital Affiliatedto Fujian Medical University Quanzhou 362000,China;Department of Pediatric Hematology,Fujian Medical University Union Hospital,Fujian Institute of Hematology,Fujian Provincial Key Laboratory of Hematology,Fuzhou 350001,China;Department of Pediatric,the First Affiliated Hospital of Xiamen University,Xiamen 361000,China;Department of Pediatric,Nanping First Hospital of Fujian Province,Nanping 353000,China;Department of Pediatric Hematology,Rheumatology and Nephrology,Zhangzhou Affiliated Hospital of Fujian Medical University,Zhangzhou 363000,China)

机构地区：[1]福建医科大学附属泉州第一医院儿科,泉州362000 [2]福建医科大学附属协和医院小儿血液科、福建省血液病研究所、福建省血液病学重点实验室,福州350001 [3]厦门大学附属第一医院儿科,厦门361000 [4]福建省南平市第一医院儿科,南平353000 [5]福建医科大学附属漳州市医院儿童血液风湿肾科,漳州363000

出　　处：《白血病．淋巴瘤》2023年第1期38-44,共7页Journal of Leukemia & Lymphoma

摘　　要：目的探讨儿童TCF3-PBX1融合基因阳性急性前体B淋巴细胞白血病(B-ALL)的临床特征及预后因素。方法回顾性分析2011年4月至2020年12月福建省5家医院(福建医科大学附属协和医院、厦门大学附属第一医院、福建医科大学附属漳州市医院、福建医科大学附属泉州第一医院、福建省南平市第一医院)收治的1287例初诊B-ALL患儿的临床资料。根据TCF3-PBX1融合基因检测结果,将患儿分为TCF3-PBX1阳性组与TCF3-PBX1阴性组,比较两组患儿的临床特征、早期治疗反应[诱导中及诱导结束时的微小残留病(MRD)]及远期疗效[总生存(OS)及无事件生存(EFS)],采用Kaplan-Meier法进行生存分析,采用Cox比例风险模型分析TCF3-PBX1阳性B-ALL的预后影响因素。83例TCF3-PBX1阳性ALL患儿中,62例治疗方案、危险分层、疗效评价采用中国儿童白血病协作组(CCLG)-ALL 2008方案,21例采用中国儿童肿瘤协作组(CCCG)-ALL 2015方案,比较两组疗效及严重不良事件(SAE)发生率。结果1287例B-ALL患儿中,83例(6.4%)TCF3-PBX1阳性。与TCF3-PBX1阴性组相比,TCF3-PBX1阳性组初诊白细胞计数(WBC)≥50×10^(9)/L的患儿比例更高,但诱导第15天或第19天MRD≥1%、诱导第33天或第46天MRD≥0.01%的患儿比例均更低(均P<0.05)。Cox回归单因素分析显示,诱导治疗第15天或第19天MRD≥1%、诱导第33天或第46天TCF3-PBX1定量≥0.01%为OS及EFS的危险因素(均P<0.05)。多因素分析显示,诱导治疗第15或第19 MRD≥1%为OS(HR=10.589,95%CI 1.903~58.933,P=0.007)及EFS(HR=10.218,95%CI 2.429~42.980,P=0.002)的独立危险因素;诱导治疗第33天或第46天TCF3-PBX1定量≥0.01%为EFS的独立危险因素(HR=6.058,95%CI 1.463~25.087,P=0.013),但不是OS的独立危险因素(HR=3.550,95%CI 0.736~17.121,P=0.115)。TCF3-PBX1阳性组10年EFS率及OS率分别为84.6%(95%CI 76.9%~93.1%)、89.1%(95%CI 82.1%~96.6%),与TCF3-PBX1阴性组差异均无统计学意义(均P>0.05)。80例接受规范治疗的患儿中,与Objective To investigate the clinical characteristics and prognostic factors of TCF3-PBX1 fusion gene-positive childhood B-cell precursor acute lymphoblastic leukemia(B-ALL).Methods sThe clinical data of 1287 newly diagnosed children with B-ALL who were admitted to five hospital in Fujian province(Fujian Medical University Union Hospital,the First Affiliated Hospital of Xiamen University,Zhangzhou Affiliated Hospital of Fujian Medical University,Quanzhou First Hospital Affiliated to Fujian Medical University,Nanping First Hospital of Fujian Province)from April 2011 to December 2020 were retrospectively analyzed.According to the results of TCF3-PBX1 fusion gene testing,all the patients were divided into TCF3-PBX1-positive group and TCF3-PBX1-negative group.The clinical characteristics,early treatment response[minimal residual disease(MRD)at middle stage and end of induction chemotherapy]and long-term efficacy[overall survival(OS)and event-free survival(EFS)]of the patients in both groups were compared.Kaplan-Meier method was used for survival analysis.The prognostic factors of TCF3-PBX1-positive B-ALL were analyzed by using Cox proportional hazards model.Among 83 children with TCF3-PBX1-positive B-ALL,the treatment regimens,risk stratification and efficacy evaluation of 62 cases were performed by using Chinese Children's Leukemia Group(CCLG)-ALL 2008 regimen and 21 cases were performed by using Chinese Children's Cancer Group(CCCG)-ALL 2015 regimen,and the efficacy and incidence of serious adverse events(SAE)between the two groups compared.Results Among 1287 B-ALL patients,83 patients(6.4%)were TCF3-PBX1-positive.The proportion of patients with initial white blood cell count(WBC)≥50×10^(9)/L in the TCF3-PBX1-positive group was higher than that in the TCF3-PBX1-negative group,while the proportions of patients with MRD≥1%on induction chemotherapy day 15 or day 19,and MRD≥0.01%on induction chemotherapy day 33 or day 46 in the TCF3-PBX1-positive group were lower than those in the TCF3-PBX1-negative group(all P<

关 键 词：癌基因融合 TCF3-PBX1融合基因 急性前体B淋巴细胞白血病 儿童 预后 

分 类 号：R733.71[医药卫生—肿瘤]